Incidental Mutation 'R4775:Ppp4r3a'
ID 367868
Institutional Source Beutler Lab
Gene Symbol Ppp4r3a
Ensembl Gene ENSMUSG00000041846
Gene Name protein phosphatase 4 regulatory subunit 3A
Synonyms 1110034C04Rik, Smek1
MMRRC Submission 041991-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.351) question?
Stock # R4775 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 101005668-101049961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101019825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 377 (V377M)
Ref Sequence ENSEMBL: ENSMUSP00000041667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048305] [ENSMUST00000163095] [ENSMUST00000223091]
AlphaFold Q6P2K6
Predicted Effect probably damaging
Transcript: ENSMUST00000048305
AA Change: V377M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846
AA Change: V377M

DomainStartEndE-ValueType
SCOP:d1k5db_ 7 96 3e-24 SMART
Pfam:SMK-1 164 357 5.8e-85 PFAM
low complexity region 407 418 N/A INTRINSIC
low complexity region 495 503 N/A INTRINSIC
low complexity region 705 720 N/A INTRINSIC
low complexity region 753 770 N/A INTRINSIC
low complexity region 795 808 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163095
AA Change: V377M

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846
AA Change: V377M

DomainStartEndE-ValueType
SCOP:d1k5db_ 7 96 4e-24 SMART
Pfam:SMK-1 166 357 2.5e-84 PFAM
low complexity region 508 516 N/A INTRINSIC
low complexity region 718 733 N/A INTRINSIC
low complexity region 766 783 N/A INTRINSIC
low complexity region 808 821 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222956
Predicted Effect probably benign
Transcript: ENSMUST00000223091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223161
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,134,165 (GRCm39) Y426C probably damaging Het
Adam7 A G 14: 68,745,361 (GRCm39) I621T probably benign Het
Adamts1 A T 16: 85,597,278 (GRCm39) Y260* probably null Het
Adgrf1 C T 17: 43,622,054 (GRCm39) L764F probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Atp9b A G 18: 80,808,984 (GRCm39) probably null Het
C5ar2 A C 7: 15,971,540 (GRCm39) L129R probably damaging Het
Ccdc174 G A 6: 91,867,875 (GRCm39) probably null Het
Cidec T C 6: 113,411,695 (GRCm39) M1V probably null Het
Clec16a G T 16: 10,456,778 (GRCm39) R663L probably damaging Het
Col25a1 T C 3: 129,976,468 (GRCm39) C118R possibly damaging Het
Cox6b2 A G 7: 4,755,074 (GRCm39) C67R probably damaging Het
Cspg4b A T 13: 113,454,229 (GRCm39) I92F possibly damaging Het
Cwf19l2 A G 9: 3,430,973 (GRCm39) Y435C probably benign Het
Dapk1 T A 13: 60,897,156 (GRCm39) S792T probably benign Het
Dis3l T A 9: 64,238,190 (GRCm39) N101Y probably benign Het
Dsg4 A G 18: 20,604,184 (GRCm39) T884A possibly damaging Het
Dvl1 T C 4: 155,942,584 (GRCm39) W617R probably benign Het
Eml5 A G 12: 98,768,566 (GRCm39) V1503A probably benign Het
Engase A T 11: 118,373,497 (GRCm39) D280V probably benign Het
F11r T C 1: 171,289,209 (GRCm39) S224P probably damaging Het
Fanca A G 8: 124,023,045 (GRCm39) V564A probably damaging Het
Foxj2 G T 6: 122,810,230 (GRCm39) Q196H probably benign Het
Gle1 T C 2: 29,826,073 (GRCm39) W51R possibly damaging Het
Gm94 A G 18: 43,925,836 (GRCm39) probably null Het
Gm9830 A T 9: 44,375,721 (GRCm39) noncoding transcript Het
Gpaa1 T A 15: 76,218,891 (GRCm39) probably null Het
Grin1 C T 2: 25,182,475 (GRCm39) A929T possibly damaging Het
Grm7 T A 6: 110,891,332 (GRCm39) D188E probably damaging Het
Gtf2ird2 T C 5: 134,242,970 (GRCm39) F395L probably benign Het
Lipo3 C A 19: 33,757,795 (GRCm39) G225C probably damaging Het
Lonrf2 T A 1: 38,857,140 (GRCm39) probably null Het
Marveld2 A G 13: 100,753,303 (GRCm39) probably benign Het
Mpl A G 4: 118,305,777 (GRCm39) L416P probably damaging Het
Mppe1 A G 18: 67,359,930 (GRCm39) L312P possibly damaging Het
Mpzl3 T A 9: 44,977,730 (GRCm39) S113T probably damaging Het
Mylk3 G A 8: 86,085,689 (GRCm39) Q149* probably null Het
Myt1 T A 2: 181,464,470 (GRCm39) I968N probably damaging Het
Ndc80 A G 17: 71,821,265 (GRCm39) Y228H probably damaging Het
Nelfcd T G 2: 174,268,369 (GRCm39) C520G probably damaging Het
Nfrkb C A 9: 31,330,345 (GRCm39) T1199K possibly damaging Het
Nipa2 A G 7: 55,585,611 (GRCm39) I109T probably benign Het
Nlrp4e A G 7: 23,042,525 (GRCm39) T804A probably benign Het
Nsf A T 11: 103,763,419 (GRCm39) I395K possibly damaging Het
Nt5c1b G A 12: 10,425,449 (GRCm39) V331I probably damaging Het
Or13a28 A T 7: 140,217,829 (GRCm39) I72F probably damaging Het
Or1e29 A G 11: 73,667,377 (GRCm39) Y259H probably damaging Het
Pask T C 1: 93,265,246 (GRCm39) D3G probably damaging Het
Pglyrp3 T C 3: 91,933,037 (GRCm39) V110A possibly damaging Het
Prr12 A G 7: 44,700,749 (GRCm39) probably benign Het
Ptdss1 G A 13: 67,135,922 (GRCm39) probably null Het
Qser1 A G 2: 104,620,246 (GRCm39) S189P probably damaging Het
Rph3a T A 5: 121,092,551 (GRCm39) Y350F probably benign Het
Skint4 A T 4: 111,993,261 (GRCm39) H328L probably damaging Het
Smyd4 G A 11: 75,282,018 (GRCm39) C497Y probably damaging Het
Stk11ip T C 1: 75,510,497 (GRCm39) W864R possibly damaging Het
Stkld1 T A 2: 26,841,757 (GRCm39) V543E probably damaging Het
Taok2 A G 7: 126,469,940 (GRCm39) S963P probably damaging Het
Tars2 A G 3: 95,653,959 (GRCm39) L354P probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpcn2 A G 7: 144,821,079 (GRCm39) L325P probably damaging Het
Trappc3l C G 10: 33,974,807 (GRCm39) H96Q probably benign Het
Trim66 A T 7: 109,056,796 (GRCm39) Y1120* probably null Het
Trio G A 15: 27,881,428 (GRCm39) Q548* probably null Het
Wipf2 T A 11: 98,781,558 (GRCm39) D32E probably benign Het
Other mutations in Ppp4r3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Ppp4r3a APN 12 101,016,053 (GRCm39) missense probably damaging 1.00
IGL00532:Ppp4r3a APN 12 101,010,912 (GRCm39) missense probably damaging 1.00
IGL01359:Ppp4r3a APN 12 101,024,755 (GRCm39) missense probably damaging 0.99
IGL01873:Ppp4r3a APN 12 101,008,094 (GRCm39) missense possibly damaging 0.86
IGL02676:Ppp4r3a APN 12 101,008,770 (GRCm39) missense probably benign 0.00
IGL02756:Ppp4r3a APN 12 101,024,582 (GRCm39) critical splice donor site probably null
IGL03196:Ppp4r3a APN 12 101,015,913 (GRCm39) splice site probably benign
IGL03206:Ppp4r3a APN 12 101,024,878 (GRCm39) missense probably damaging 1.00
R1101:Ppp4r3a UTSW 12 101,017,830 (GRCm39) missense probably damaging 0.98
R1434:Ppp4r3a UTSW 12 101,009,783 (GRCm39) missense probably damaging 0.99
R1526:Ppp4r3a UTSW 12 101,007,000 (GRCm39) missense probably damaging 0.99
R1554:Ppp4r3a UTSW 12 101,022,081 (GRCm39) missense probably damaging 1.00
R1650:Ppp4r3a UTSW 12 101,010,878 (GRCm39) missense probably damaging 0.99
R1766:Ppp4r3a UTSW 12 101,024,741 (GRCm39) missense probably damaging 0.99
R2152:Ppp4r3a UTSW 12 101,008,826 (GRCm39) missense probably damaging 0.99
R2322:Ppp4r3a UTSW 12 101,008,878 (GRCm39) missense probably damaging 0.98
R2421:Ppp4r3a UTSW 12 101,008,912 (GRCm39) splice site probably benign
R2422:Ppp4r3a UTSW 12 101,008,912 (GRCm39) splice site probably benign
R2859:Ppp4r3a UTSW 12 101,008,906 (GRCm39) critical splice acceptor site probably null
R2884:Ppp4r3a UTSW 12 101,034,936 (GRCm39) missense probably damaging 0.99
R4157:Ppp4r3a UTSW 12 101,021,878 (GRCm39) missense probably damaging 0.97
R4651:Ppp4r3a UTSW 12 101,049,170 (GRCm39) utr 5 prime probably benign
R4652:Ppp4r3a UTSW 12 101,049,170 (GRCm39) utr 5 prime probably benign
R4706:Ppp4r3a UTSW 12 101,008,175 (GRCm39) missense probably damaging 1.00
R4773:Ppp4r3a UTSW 12 101,049,026 (GRCm39) missense possibly damaging 0.93
R5467:Ppp4r3a UTSW 12 101,009,729 (GRCm39) missense probably damaging 0.99
R5634:Ppp4r3a UTSW 12 101,009,780 (GRCm39) missense probably damaging 1.00
R5704:Ppp4r3a UTSW 12 101,049,619 (GRCm39) utr 5 prime probably benign
R5707:Ppp4r3a UTSW 12 101,024,770 (GRCm39) missense probably damaging 1.00
R5935:Ppp4r3a UTSW 12 101,017,872 (GRCm39) missense probably damaging 1.00
R5969:Ppp4r3a UTSW 12 101,009,838 (GRCm39) missense probably benign
R6030:Ppp4r3a UTSW 12 101,024,659 (GRCm39) missense probably damaging 0.97
R6030:Ppp4r3a UTSW 12 101,024,659 (GRCm39) missense probably damaging 0.97
R6630:Ppp4r3a UTSW 12 101,016,035 (GRCm39) missense probably damaging 1.00
R7265:Ppp4r3a UTSW 12 101,019,770 (GRCm39) missense possibly damaging 0.77
R7352:Ppp4r3a UTSW 12 101,008,091 (GRCm39) missense probably damaging 1.00
R7402:Ppp4r3a UTSW 12 101,025,053 (GRCm39) missense possibly damaging 0.94
R7761:Ppp4r3a UTSW 12 101,022,080 (GRCm39) missense probably damaging 0.98
R7808:Ppp4r3a UTSW 12 101,019,755 (GRCm39) missense possibly damaging 0.94
R7811:Ppp4r3a UTSW 12 101,019,821 (GRCm39) missense probably damaging 0.98
R8062:Ppp4r3a UTSW 12 101,008,230 (GRCm39) missense probably damaging 0.98
R8222:Ppp4r3a UTSW 12 101,008,164 (GRCm39) missense probably benign 0.09
R8409:Ppp4r3a UTSW 12 101,008,752 (GRCm39) missense probably benign 0.02
R8435:Ppp4r3a UTSW 12 101,049,048 (GRCm39) missense probably benign 0.19
R8471:Ppp4r3a UTSW 12 101,021,901 (GRCm39) missense probably benign 0.01
R9010:Ppp4r3a UTSW 12 101,024,591 (GRCm39) missense possibly damaging 0.58
R9137:Ppp4r3a UTSW 12 101,021,794 (GRCm39) missense possibly damaging 0.95
R9335:Ppp4r3a UTSW 12 101,007,013 (GRCm39) missense probably damaging 1.00
R9336:Ppp4r3a UTSW 12 101,015,919 (GRCm39) missense probably benign
R9666:Ppp4r3a UTSW 12 101,049,129 (GRCm39) start codon destroyed probably null 0.39
R9752:Ppp4r3a UTSW 12 101,008,763 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGACTACCTGTTCCCCAAAAG -3'
(R):5'- TGCTGGAACATCAAGCAGC -3'

Sequencing Primer
(F):5'- CCTGTTCCCCAAAAGTAGTTTAG -3'
(R):5'- TGCTGGAACATCAAGCAGCTTAAC -3'
Posted On 2015-12-29